Uhlobo lwe-Mucopolysaccharidosis III

Uhlobo lweMucopolysaccharidosis III (MPS III) yisifo esingajwayelekile lapho umzimba ulahlekile noma ungenawo ama-enzyme athile adingekayo ukudiliza amaketanga amade ama-molecule kashukela. Lawa maketanga ama-molecule abizwa ngama-glycosaminoglycans (phambilini abizwa nge-mucopolysaccharides). Ngenxa yalokhu, ama-molecule akheka ezingxenyeni ezihlukene zomzimba futhi abangele izinkinga zempilo ezahlukahlukene.

Isimo singeqembu lezifo ezibizwa nge-mucopolysaccharidoses (MPSs). I-MPS II yaziwa nangokuthi iSanfilippo syndrome.

Kunezinye izinhlobo eziningana zama-MPS, kufaka phakathi:

• I-MPS I (i-Hurler syndrome; i-Hurler-Scheie syndrome; i-Scheie syndrome)
• I-MPS II (Hunter syndrome)
• I-MPS IV (iMorquio syndrome)

I-MPS III yisifo esizuzwe njengefa. Lokhu kusho ukuthi kudluliselwa emindenini. Uma bobabili abazali bephethe ikhophi engasebenzi yesakhi sofuzo esihlobene nalesi simo, ingane ngayinye inethuba lama-25% (1 koku-4) lokuthola lesi sifo. Lokhu kubizwa ngokuthi yisici se-autosomal recessive.

I-MPS III ivela lapho ama-enzyme adingekayo ukwehlisa uchungechunge lwe-heparan sulphate ushukela engekho noma enesici.

Kunezinhlobo ezine eziyinhloko ze-MPS III. Uhlobo umuntu analo kuncike ekutheni iyiphi i-enzyme ethintekayo.

• Uhlobo A lubangelwa isici ku- SGSH gene futhi ifomu elibi kakhulu. Abantu abanalolu hlobo abanalo uhlobo olujwayelekile lwe-enzyme ebizwa nge-heparan N-sulfatase.
• Uhlobo B lubangelwa ukukhubazeka kufayela le- NAGLU isakhi sofuzo. Abantu abanalolu hlobo abalahlekile noma abakhiqizi i-alpha- eyaneleN-acetylglucosaminidase.
• Uhlobo C lubangelwa isici ku- I-HGSNAT isakhi sofuzo. Abantu abanalolu hlobo abalahlekile noma abakhiqizi i-acetyl-CoA eyanele: i-alpha-glucosaminide N-acetyltransferase.
• Uhlobo D lubangelwa isici ku- I-GNS isakhi sofuzo. Abantu abanalolu hlobo abalahlekile noma abakhiqizi ngokwanele N-acetylglucosamine 6-sulfatase.

Izimpawu zivame ukuvela ngemuva konyaka wokuqala wokuphila. Ukwehla kwekhono lokufunda kwenzeka kakhulu phakathi kweminyaka engu-2 nengu-6. Ingane ingaba nokukhula okujwayelekile phakathi neminyaka embalwa yokuqala, kepha ubude bokugcina bungaphansi kwesilinganiso. Intuthuko ebambezelekile ilandelwa ukwehla kwesimo sengqondo.

Ezinye izimpawu zingafaka:

• Izinkinga zokuziphatha, kufaka phakathi ukungasebenzi kahle
• Izici zobuso ezimangelengele ezinamashiya asindayo ahlangana maphakathi nobuso ngenhla kwekhala
• Uhudo olungamahlalakhona
• Isibindi esikhulisiwe nobende
• Ubunzima bokulala
• Amalunga aqinile angangeluleki ngokugcwele
• Izinkinga zombono nokulahleka kokuzwa
• Izinkinga zokuhamba

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa komzimba.

Ukuhlolwa komchamo kuzokwenziwa. Abantu abane-MPS III banenani elikhulu le-mucopolysaccharide elibizwa nge-heparan sulfate emchameni.

Ezinye izivivinyo zingafaka:

• Isiko legazi
• I-Echocardiogram
• Ukuhlolwa kofuzo
• Sika isibani sesibani
• Isiko lesikhumba se-fibroblast
• I-X-ray yamathambo

Ukwelashwa kwe-MPS III kuhlose ukuphatha izimpawu. Akukho ukwelashwa okuqondile kwalesi sifo.

Ukuthola eminye imininingwane nokuxhaswa, xhumana nenye yalezi zinhlangano ezilandelayo:

• Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile --rarediseases.org/rare-diseases/mucopolysaccharidosis-type-iii
• Isethenjwa Sasekhaya se-NIH - ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii
• Iqembu leSanfilippo Foundation - amaqembuanepilippo.org

I-MPS III ibangela izimpawu zesistimu yezinzwa ezibalulekile, kufaka phakathi ukukhubazeka okukhulu kwengqondo. Iningi labantu abane-MPS III baphila eminyakeni yabo yobusha. Abanye baphila isikhathi eside, kanti abanye abanezimo ezinzima bafa besebancane. Izimpawu zinzima kakhulu kubantu abanohlobo A.

Lezi zinkinga zingenzeka:

• Ubumpumputhe
• Ukungakwazi ukuzinakekela
• Ukukhubazeka kwengqondo
• Ukulimala kwezinzwa okuya ngokuya kuba kubi futhi ekugcineni kudinga ukusetshenziswa kwesihlalo esinamasondo
• Ukuquleka

Shayela umhlinzeki wengane yakho uma ingane yakho ibonakala ingakhuli noma ikhula ngokujwayelekile.

Bona umhlinzeki wakho uma uhlela ukuba nezingane futhi unomlando womndeni we-MPS III.

Ukwelulekwa ngofuzo kunconyelwe imibhangqwana efuna ukuba nezingane futhi enomlando womndeni we-MPS III. Ukuhlolwa ngaphambi kokubeletha kuyatholakala.

MPS III; Isifo seSanfilippo; MPS IIIA; MPS IIIB; MPS IIIC; MPS IIID; Isifo seLysosomal - uhlobo lwe-mucopolysaccharidosis III

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I-Spranger JW. I-Mucopolysaccharidoses. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 107.

I-Turnpenny PD, u-Ellard S. Amaphutha wokuzalwa we-metabolism.Ku: Turnpenny PD, Ellard S, eds. Izinto zika-Emery ze-Medical Genetics. Umhla ka-15. IPhiladelphia, PA: Elsevier; 2017: isahluko 18.